#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G			Somatic				KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	18	0	0	0	1	0	5	18				
PTCH2	8643	broad.mit.edu	37	1	45293304	45293304	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:45293304G>A	ENST00000372192.3	-	15	2271	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PTCH2_ENST00000447098.2_Missense_Mutation_p.T714M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	714					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACCACATCCGTCAGGGCCAG	0.632									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2140-2142)aCg>aTg		patched 2							70.0	76.0	74.0					1																	45293304		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293304G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2141C>T	1.37:g.45293304G>A	ENSP00000361266:p.Thr714Met		Somatic				PTCH2_ENST00000372192.3_Missense_Mutation_p.T714M	p.T714M	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C5	PTC2_HUMAN			15	2152	-	Acute lymphoblastic leukemia(166;0.155)		714					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2141C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696360	0.68386	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93076	-3.15;-3.16	4.6	4.6	0.57074	.	0.000000	0.40818	N	0.001018	D	0.95236	0.8455	M	0.64080	1.96	0.58432	D	0.999999	P;D	0.76494	0.903;0.999	B;P	0.58970	0.355;0.849	D	0.95336	0.8434	10	0.52906	T	0.07	-12.2555	17.7904	0.88551	0.0:0.0:1.0:0.0	.	714;714	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	714	ENSP00000389703:T714M;ENSP00000361266:T714M	ENSP00000361266:T714M	T	-	2	0	PTCH2	45065891	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.152000	0.94680	2.276000	0.75962	0.557000	0.71058	ACG		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		29	43	0	0	0	1	0	29	43				
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro		Somatic				PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	WXS	Illumina GAIIx	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		9	36	0	0	0	1	0	9	36				
ALCAM	214	broad.mit.edu	37	3	105253540	105253540	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253540C>A	ENST00000306107.5	+	6	1081	c.581C>A	c.(580-582)cCa>cAa	p.P194Q	ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	194	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAATGGACCCAGTGACTCAG	0.418																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(580-582)cCa>cAa		activated leukocyte cell adhesion molecule							137.0	134.0	135.0					3																	105253540		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253540C>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.581C>A	3.37:g.105253540C>A	ENSP00000305988:p.Pro194Gln		Somatic				ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q	p.P194Q	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			6	1081	+			194			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.581C>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330491	0.41297	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.77358	1.05;1.05;1.05;-1.09	5.84	4.96	0.65561	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324116	0.37577	N	0.002021	T	0.72309	0.3444	M	0.64997	1.995	0.20074	N	0.999935	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.13407	0.008;0.009;0.009	T	0.58792	-0.7574	10	0.23302	T	0.38	-4.2975	10.8305	0.46656	0.2436:0.6243:0.1321:0.0	.	3;194;194	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	Q	194;194;143;3	ENSP00000305988:P194Q;ENSP00000419236:P194Q;ENSP00000418213:P143Q;ENSP00000374577:P3Q	ENSP00000305988:P194Q	P	+	2	0	ALCAM	106736230	0.155000	0.22806	0.990000	0.47175	0.979000	0.70002	0.068000	0.14531	1.455000	0.47813	-0.188000	0.12872	CCA		0.418	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		4	150	1	0	2.56e-06	1	2.92571e-06	4	150				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	37	0	0	0	1	0	3	37				
BEST3	144453	broad.mit.edu	37	12	70087541	70087541	+	Missense_Mutation	SNP	C	C	T	rs117505973		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:70087541C>T	ENST00000330891.5	-	4	620	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGATTGACGTAGCGCATC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17781	0.0		0.001	False		,,,				2504	0.0					ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(394-396)Gtc>Atc		bestrophin 3		C	ILE/VAL	0,4406		0,0,2203	143.0	115.0	124.0		394	5.9	0.2	12	dbSNP_132	124	1,8599	1.2+/-3.3	0,1,4299	no	missense	BEST3	NM_032735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	132/669	70087541	1,13005	2203	4300	6503	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70087541C>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.394G>A	12.37:g.70087541C>T	ENSP00000332413:p.Val132Ile		Somatic				BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I|BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000533674.1_5'UTR	p.V132I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		4	620	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		132					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.394G>A	CCDS8992.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.37	1.619973	0.28801	0.0	1.16E-4	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.88	5.88	0.94601	.	0.056855	0.64402	D	0.000001	D	0.96583	0.8885	N	0.26162	0.8	0.39901	D	0.973901	P;B	0.38535	0.635;0.019	B;B	0.37508	0.252;0.01	D	0.96348	0.9256	10	0.39692	T	0.17	-22.1823	20.2187	0.98312	0.0:1.0:0.0:0.0	.	132;132	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	I	132;132;26;26;26;26;26	ENSP00000329064:V132I;ENSP00000332413:V132I;ENSP00000449548:V26I;ENSP00000447689:V26I;ENSP00000266661:V26I;ENSP00000449377:V26I;ENSP00000377032:V26I	ENSP00000266661:V26I	V	-	1	0	BEST3	68373808	0.993000	0.37304	0.212000	0.23672	0.485000	0.33311	3.083000	0.50136	2.780000	0.95670	0.655000	0.94253	GTC		0.532	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		19	49	0	0	0	1	0	19	49				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C			Somatic						NR_003266.2		WXS	Illumina GAIIx	Phase_I					0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	73	0	0	0	1	0	5	73				
PHF3	23469	broad.mit.edu	37	6	64423006	64423006	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr6:64423006C>A	ENST00000262043.3	+	16	5862	c.5522C>A	c.(5521-5523)cCc>cAc	p.P1841H	PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H			Q92576	PHF3_HUMAN	PHD finger protein 3	1841	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATTACTTCCCCCTCCAGGC	0.517																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5521-5523)cCc>cAc		PHD finger protein 3							134.0	141.0	139.0					6																	64423006		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64423006C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5522C>A	6.37:g.64423006C>A	ENSP00000262043:p.Pro1841His		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H	p.P1841H			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5862	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1841			Pro-rich.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5522C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421969	0.43020	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.47528	0.84;0.84	5.97	5.97	0.96955	.	0.000000	0.39341	N	0.001398	T	0.47507	0.1449	L	0.27053	0.805	0.46376	D	0.999014	D	0.76494	0.999	D	0.63488	0.915	T	0.25710	-1.0124	9	.	.	.	-1.3917	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1841	Q92576	PHF3_HUMAN	H	1841	ENSP00000262043:P1841H;ENSP00000377048:P1841H	.	P	+	2	0	PHF3	64480965	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.411000	0.59781	2.836000	0.97738	0.655000	0.94253	CCC		0.517	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	171	1	0	0.014758	1	0.0157419	4	171				
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:20156735C>G	ENST00000379607.5	-	2	225	c.22G>C	c.(22-24)Gga>Cga	p.G8R	EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Cga		eukaryotic translation initiation factor 1A, X-linked							135.0	126.0	129.0					X																	20156735		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156735C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.22G>C	X.37:g.20156735C>G	ENSP00000368927:p.Gly8Arg		Somatic				EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			2	225	-			8					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599550	0.66332	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	EIF1AX	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			35	30	0	0	0	1	0	35	30				
UNC13B	10497	broad.mit.edu	37	9	35380591	35380591	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr9:35380591G>A	ENST00000378495.3	+	17	2305	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	695					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACCATCATTGAGGTTCGGAC	0.493																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2083-2085)Gag>Aag		unc-13 homolog B (C. elegans)							210.0	168.0	182.0					9																	35380591		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35380591G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2083G>A	9.37:g.35380591G>A	ENSP00000367756:p.Glu695Lys		Somatic				UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K	p.E695K	NM_006377.3	NP_006368.3	WXS	Illumina GAIIx	Phase_I	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		17	2305	+	all_epithelial(49;0.212)		695					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2083G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420339	0.96111	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.70516	-0.49;-0.49;-0.49	5.4	5.4	0.78164	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.84683	2.71	0.80722	D	1	P;P	0.48407	0.91;0.707	P;B	0.45577	0.486;0.255	D	0.83755	0.0211	10	0.87932	D	0	-18.5232	18.1339	0.89610	0.0:0.0:1.0:0.0	.	695;695	F8W8M9;O14795	.;UN13B_HUMAN	K	707;695;695;282	ENSP00000380006:E707K;ENSP00000367756:E695K;ENSP00000367757:E695K	ENSP00000367756:E695K	E	+	1	0	UNC13B	35370591	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	9.760000	0.98935	2.539000	0.85634	0.591000	0.81541	GAG		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		4	86	0	0	0	1	0	4	86				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		23	29	0	0	0	1	0	23	29				
ALCAM	214	broad.mit.edu	37	3	105253508	105253508	+	Splice_Site	SNP	G	G	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253508G>C	ENST00000306107.5	+	6	1049	c.549G>C	c.(547-549)gcG>gcC	p.A183A	ALCAM_ENST00000486979.2_Splice_Site_p.A132A|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000389927.4_5'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	183	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTTCTTCAGCGGTGGTCATAA	0.403																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(547-549)gcG>gcC		activated leukocyte cell adhesion molecule							98.0	98.0	98.0					3																	105253508		2203	4300	6503	SO:0001630	splice_region_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253508G>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.548-1G>C	3.37:g.105253508G>C			Somatic				ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000486979.2_Splice_Site_p.A132A	p.A183A	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			6	1049	+			183			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Splice_Site	SNP	ENST00000306107.5	37	c.549G>C	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640046	0.29157	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.54	0.919	0.19392	.	.	.	.	.	T	0.51787	0.1695	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	5.7564	0.18176	0.1724:0.0:0.279:0.5485	.	.	.	.	R	31	.	.	G	+	1	0	ALCAM	106736198	0.872000	0.30054	0.211000	0.23655	0.977000	0.68977	1.162000	0.31786	0.348000	0.23949	0.650000	0.86243	GGT		0.403	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	Silent	4	98	0	0	0	1	0	4	98				
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	T	A	rs571846793		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr14:21961062T>A	ENST00000405508.1	+	8	1563	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	429	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.0					ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)gcT>gcA		TOX high mobility group box family member 4							63.0	73.0	70.0					14																	21961062		2201	4298	6499	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961062T>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1287T>A	14.37:g.21961062T>A			Somatic				TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A	p.A429A			WXS	Illumina GAIIx	Phase_I	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1563	+	all_cancers(95;0.000465)		429			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.1287T>A	CCDS32043.1																																																																																				0.582	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		4	160	0	0	0	1	0	4	160				
RPL36AL	6166	broad.mit.edu	37	14	50085633	50085633	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr14:50085633T>C	ENST00000298289.6	-	2	349	c.190A>G	c.(190-192)Aag>Gag	p.K64E	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	64					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					ACAATCTTCTTTGTGGTCTTA	0.483																																						ENST00000298289.6																			0											c.(190-192)Aag>Gag		ribosomal protein L36a-like							125.0	118.0	121.0					14																	50085633		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085633T>C	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.190A>G	14.37:g.50085633T>C	ENSP00000346012:p.Lys64Glu		Somatic					p.K64E	NM_001001.4	NP_000992.1	WXS	Illumina GAIIx	Phase_I	Q969Q0	RL36L_HUMAN			2	349	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		64					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.190A>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458582	0.63401	.	.	ENSG00000165502	ENST00000298289	T	0.68624	-0.34	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.64659	0.2618	.	.	.	0.39434	D	0.96713	B	0.23442	0.085	B	0.35312	0.2	T	0.68723	-0.5333	9	0.72032	D	0.01	-19.8244	11.9374	0.52880	0.0:0.0:0.0:1.0	.	64	Q969Q0	RL36L_HUMAN	E	64	ENSP00000346012:K64E	ENSP00000346012:K64E	K	-	1	0	RPL36AL	49155383	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	7.442000	0.80503	2.142000	0.66516	0.472000	0.43445	AAG		0.483	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			25	146	0	0	0	1	0	25	146				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T			Somatic				CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	p.Q452Q	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	148	0	0	0	1	0	4	148				
CUX2	23316	broad.mit.edu	37	12	111748381	111748381	+	Missense_Mutation	SNP	C	C	T	rs200707164		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:111748381C>T	ENST00000261726.6	+	15	1949	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAAGCCCTGGCGCAAGCTCAC	0.607																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1795-1797)Cgc>Tgc		cut-like homeobox 2							55.0	62.0	60.0					12																	111748381		2067	4205	6272	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748381C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1795C>T	12.37:g.111748381C>T	ENSP00000261726:p.Arg599Cys		Somatic					p.R599C	NM_015267.3	NP_056082.2	WXS	Illumina GAIIx	Phase_I	O14529	CUX2_HUMAN			15	1949	+			599					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1795C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462233	0.63513	.	.	ENSG00000111249	ENST00000261726	T	0.48201	0.82	4.77	3.78	0.43462	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58418	-0.7640	10	0.72032	D	0.01	-20.2025	13.8411	0.63439	0.255:0.745:0.0:0.0	.	599	O14529	CUX2_HUMAN	C	599	ENSP00000261726:R599C	ENSP00000261726:R599C	R	+	1	0	CUX2	110232764	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.316000	0.51960	2.201000	0.70794	0.313000	0.20887	CGC		0.607	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		12	78	0	0	0	1	0	12	78				
FAM47A	158724	broad.mit.edu	37	X	34148577	34148577	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:34148577T>C	ENST00000346193.3	-	1	1870	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	607										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCACGGAGTTTTTCCGATGTG	0.438																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1819-1821)Aaa>Gaa		family with sequence similarity 47, member A							80.0	74.0	76.0					X																	34148577		2126	4251	6377	SO:0001583	missense	158724							g.chrX:34148577T>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1819A>G	X.37:g.34148577T>C	ENSP00000345029:p.Lys607Glu		Somatic					p.K607E	NM_203408.3	NP_981953.2	WXS	Illumina GAIIx	Phase_I	Q5JRC9	FA47A_HUMAN			1	1870	-			607					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1819A>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266095	0.23136	.	.	ENSG00000185448	ENST00000346193	T	0.42131	0.98	1.8	-0.229	0.13094	.	.	.	.	.	T	0.35913	0.0948	M	0.68317	2.08	0.09310	N	1	P	0.45827	0.867	P	0.44394	0.448	T	0.26744	-1.0094	9	0.12103	T	0.63	.	4.075	0.09899	0.0:0.5191:0.0:0.4809	.	607	Q5JRC9	FA47A_HUMAN	E	607	ENSP00000345029:K607E	ENSP00000345029:K607E	K	-	1	0	FAM47A	34058498	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.463000	0.06696	-0.148000	0.11234	-0.495000	0.04643	AAA		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		30	33	0	0	0	1	0	30	33				
UBR4	23352	broad.mit.edu	37	1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:19488948G>A	ENST00000375254.3	-	35	4949	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1641V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTCCACCGCCAACTCCTC	0.502																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4921-4923)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 4							133.0	123.0	126.0					1																	19488948		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488948G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4922C>T	1.37:g.19488948G>A	ENSP00000364403:p.Ala1641Val		Somatic				UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V	p.A1641V			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4925	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1641					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4922C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157780	0.78114	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	.	0.056777	0.64402	D	0.000001	T	0.41534	0.1163	N	0.12182	0.205	0.80722	D	1	P	0.43662	0.814	B	0.26693	0.072	T	0.42582	-0.9443	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1641	Q5T4S7	UBR4_HUMAN	V	1641;1641;1641;1641;351;857	ENSP00000364403:A1641V;ENSP00000364416:A1641V;ENSP00000364365:A1641V;ENSP00000364374:A1641V	ENSP00000364365:A1641V	A	-	2	0	UBR4	19361535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.583000	0.82559	2.894000	0.99253	0.591000	0.81541	GCG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	152	0	0	0	1	0	4	152				
OR51I2	390064	broad.mit.edu	37	11	5475623	5475623	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:5475623C>T	ENST00000341449.2	+	1	986	c.905C>T	c.(904-906)gCc>gTc	p.A302V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCGCCGAGCCATTTTCCGC	0.433																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(904-906)gCc>gTc		olfactory receptor, family 51, subfamily I, member 2							127.0	128.0	128.0					11																	5475623		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475623C>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.905C>T	11.37:g.5475623C>T	ENSP00000341987:p.Ala302Val		Somatic				HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.A302V	NM_001004754.2	NP_001004754.1	WXS	Illumina GAIIx	Phase_I	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	302					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.905C>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335702	0.24253	.	.	ENSG00000187918	ENST00000341449	T	0.44881	0.91	5.3	3.33	0.38152	.	0.403128	0.23506	N	0.047458	T	0.45677	0.1354	M	0.73753	2.245	0.09310	N	1	P	0.48694	0.914	B	0.44044	0.439	T	0.45512	-0.9256	10	0.54805	T	0.06	.	11.4583	0.50195	0.0:0.6204:0.3796:0.0	.	302	Q9H344	O51I2_HUMAN	V	302	ENSP00000341987:A302V	ENSP00000341987:A302V	A	+	2	0	OR51I2	5432199	0.022000	0.18835	0.947000	0.38551	0.074000	0.17049	0.880000	0.28159	1.450000	0.47717	0.563000	0.77884	GCC		0.433	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		4	121	0	0	0	1	0	4	121				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		Somatic				CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	86	0	0	0	1	0	3	86				
LRRC37A6P	387646	broad.mit.edu	37	10	27539603	27539603	+	lincRNA	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr10:27539603G>A	ENST00000574842.1	+	0	872				LRRC37A6P_ENST00000284414.4_RNA																							GCTGGGCTTGGGAAGATTCTT	0.507																																						ENST00000574842.1																			0																																																			0							g.chr10:27539603G>A																													10.37:g.27539603G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	872	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.507	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			7	262	0	0	0	1	0	7	262				
TMEM179B	374395	broad.mit.edu	37	11	62557411	62557411	+	Silent	SNP	C	C	T	rs149169067		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:62557411C>T	ENST00000333449.4	+	5	557	c.552C>T	c.(550-552)gtC>gtT	p.V184V	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGCTCCAGGTCGTGCAGTGGA	0.557																																						ENST00000333449.4																			0				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(550-552)gtC>gtT		transmembrane protein 179B		C		0,4402		0,0,2201	188.0	179.0	182.0		552	-3.4	0.0	11	dbSNP_134	182	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TMEM179B	NM_199337.2		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		184/220	62557411	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	374395					integral to membrane		g.chr11:62557411C>T	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.552C>T	11.37:g.62557411C>T			Somatic				TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	p.V184V	NM_199337.2	NP_955369.1	WXS	Illumina GAIIx	Phase_I	Q7Z7N9	T179B_HUMAN			5	557	+			184						Silent	SNP	ENST00000333449.4	37	c.552C>T	CCDS8036.1																																																																																				0.557	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		8	137	0	0	0	1	0	8	137				
LONRF3	79836	broad.mit.edu	37	X	118109321	118109321	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:118109321C>T	ENST00000371628.3	+	1	609	c.578C>T	c.(577-579)gCg>gTg	p.A193V	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Missense_Mutation_p.A193V	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	193							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CGGCGCTGTGCGCTGTGCGGG	0.677																																						ENST00000304778.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(577-579)gCg>gTg		LON peptidase N-terminal domain and ring finger 3							20.0	15.0	17.0					X																	118109321		2173	4211	6384	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109321C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.578C>T	X.37:g.118109321C>T	ENSP00000360690:p.Ala193Val		Somatic				LONRF3_ENST00000371628.3_Missense_Mutation_p.A193V	p.A193V	NM_024778.4	NP_079054.3	WXS	Illumina GAIIx	Phase_I	Q496Y0	LONF3_HUMAN			1	741	+			193					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.578C>T	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801957	0.31869	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.17054	2.3;2.3;2.3	4.18	3.31	0.37934	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.373188	0.23949	N	0.042962	T	0.11110	0.0271	L	0.36672	1.1	0.51482	D	0.999924	B;B	0.25235	0.121;0.104	B;B	0.23150	0.008;0.044	T	0.18241	-1.0343	10	0.59425	D	0.04	-11.6896	2.5756	0.04806	0.2791:0.5216:0.0:0.1993	.	193;193	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	V	193	ENSP00000360691:A193V;ENSP00000307732:A193V;ENSP00000360690:A193V	ENSP00000307732:A193V	A	+	2	0	LONRF3	117993349	0.331000	0.24713	0.921000	0.36526	0.867000	0.49689	0.547000	0.23299	2.083000	0.62718	0.529000	0.55759	GCG		0.677	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		3	33	0	0	0	1	0	3	33				
TRIM7	81786	broad.mit.edu	37	5	180622297	180622297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr5:180622297delC	ENST00000274773.7	-	7	1466	c.1405delG	c.(1405-1407)gtgfs	p.V469fs	TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Frame_Shift_Del_p.V261fs|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs|TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|CTC-338M12.6_ENST00000502812.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACGGCTCCCACCTCCAGGTCC	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(781-783)gtgfs		tripartite motif containing 7							41.0	26.0	31.0					5																	180622297		2193	4297	6490	SO:0001589	frameshift_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622297delC	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1405delG	5.37:g.180622297delC	ENSP00000274773:p.Val469fs		Somatic				TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs|TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000274773.7_Frame_Shift_Del_p.V469fs	p.V261fs	NM_203296.1	NP_976041.1	WXS	Illumina GAIIx	Phase_I	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1478	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	469					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Frame_Shift_Del	DEL	ENST00000274773.7	37	c.781delG	CCDS4462.1																																																																																				0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		2	4						2	4	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131904796	131904799	+	lincRNA	DEL	AATG	AATG	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr10:131904796_131904799delAATG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		TTCGCAACAAAATGAATTGATGGC	0.363																																						ENST00000456581.1																			0																																																			0							g.chr10:131904796_131904799delAATG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131904796_131904799delAATG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	DEL	ENST00000456581.1	37																																																																																						0.363	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			9	19						9	19	---	---	---	---
UPK2	7379	broad.mit.edu	37	11	118827106	118827106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:118827106delC	ENST00000264031.2	+	1	81	c.46delC	c.(46-48)ctgfs	p.L17fs	UPK2_ENST00000534788.1_Intron|RP11-158I9.7_ENST00000584831.1_RNA	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	17					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GATCCTGATTCTGCTGGCTCT	0.647																																						ENST00000264031.2																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(46-48)ctgfs		uroplakin 2							86.0	73.0	77.0					11																	118827106		2200	4295	6495	SO:0001589	frameshift_variant	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118827106delC	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.46delC	11.37:g.118827106delC	ENSP00000264031:p.Leu17fs		Somatic				UPK2_ENST00000534788.1_Intron	p.L17fs	NM_006760.3	NP_006751.1	WXS	Illumina GAIIx	Phase_I	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	81	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	17					B0YJ92|O00457|Q53YV0	Frame_Shift_Del	DEL	ENST00000264031.2	37	c.46delC	CCDS8404.1																																																																																				0.647	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	NM_006760		9	93						9	93	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3724-3726)gaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540315_93540316insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs		Somatic				CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	p.E1242fs	NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		29	4792_4793	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1242					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.3724_3725insA	CCDS10374.2																																																																																				0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	55						7	55	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		3	6						3	6	---	---	---	---
